Genetic Diseases

1. Regarding structure of DNA all are true except

A. The two chains are linked by hydrogen bonds
B. The purine base adenine is paired with the pyrimidine base thymine
C. DNA consists of a sugar–phosphate backbone
D. DNA contains the five-carbon sugar ribose
E. The purine base guanine is paired with the cytosine

2. Mr and Mrs Alexander are here for preconception counselling. Both of them are carriers of most common mutation, ΔF508. They want to know chances of them having normal child

A. 1 in 2
B. 1 in 4
C. 3 in 4
D. 2 in 4
E. 1 in 3

3. Ms. Shakeela has come with her partner for genetic counselling. Her partner Adam is carrier of Duchenne muscular dystrophy. Ms. Shakeela’s status is unknown. All are true regarding the inheritance except

A. All daughters will be carriers if Ms. Shakeela is normal
B. 50% Daughters are affected if Ms. Shakeela is normal
C. 1 in 4 children would have Duchenne muscular dystrophy if Ms. Shakeela is also carrier
D. None of the sons are affected if only Adam is carrier
E. All are correct

4. Which is the most common trisomy in humans which causes major anomalies in foetus?

A. Trisomy 16.
B. Trisomy 18.
C. Trisomy 13.
D. Trisomy 21
E. None of the above

5. Regarding Numerical abnormalities of chromosomes all are true except

A. Aneuploidy refers to the gaining or loss of a chromosome.
B. The addition of one or more complete sets of chromosomes is called polyploidy.
C. Monosomy refers to the loss of a chromosome
D. Monosomy refers to addition of chromosome
E. Turners syndrome is example of Monosomy

6. All are true statements regarding description of foetal abnormalities except

A. Malformation is Resulting from inherent abnormality in early embryonic life
B. Dysplasia is resulting from abnormal tissue development
C. Sequence refers to a collection of abnormalities whose pathogenesis is linked
D. Deformation Abnormal developments as a result of external interference
E. All are correct

7. A man whose father was colour-blind married a woman, who had a mother who is color blind and normal father. What is the probability of male children of this couple being colour-blind ?

A. 1/4
B. 1/2
C. 1/8
D. 1/12
E. 0%

8. If both parents are carriers for beta thalassemia, what are the chances of this couple having an affected child ?

A. 1/4
B. 1/2
C. 1/8
D. 1/12
E. 1/16

9. A 28year-old woman has come to see you in antenatal clinic. She is at 10 weeks of gestation in her first pregnancy. Her partner is known to have Duchenne muscular dystrophy. She is otherwise fit and healthy. She has been tested negative for the condition. What is the risk of her child being a carrier for the same condition?

A. 0 : 4
B. 1 : 4
C. 2 : 4
D. 3 : 4
E. 4 : 4

Genetic Diseases

Genetic Diseases

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